Published online Feb 26, 2023. doi: 10.12998/wjcc.v11.i6.1393
Peer-review started: November 8, 2022
First decision: November 24, 2022
Revised: December 7, 2022
Accepted: February 2, 2023
Article in press: February 2, 2023
Published online: February 26, 2023
Processing time: 108 Days and 5.9 Hours
Patients with obstructive jaundice caused by intrahepatic bile duct stones can be effectively managed by surgery. However, some patients may develop postope
A 52-year-old male patient admitted to the hospital on October 23, 2021, with a progressive exacerbation of jaundice, was found to have multiple intrahepatic bile duct stones with the diagnoses of obstructive jaundice and acute cholecystitis. Subsequently, the patient underwent left hepatectomy with biliary exploration, stone extraction, T-tube drainage, and cholecystectomy without developing any intraoperative complications. The patient had a dark urine color with worsening jaundice postoperatively and did not respond well to plasma exchange and other symptomatic and supportive treatments. Since the progressive increase in postoperative bilirubin could not be clinically explained with any potential reason, including, if not at all, viral infection, cholangitis, autoimmune liver disease, and other causes, the patient underwent whole-exon screening for any genetic diseases, which surprisingly identified UGT1A1 and ABCB11 gene mutations related to glucuronidation of indirect bilirubin as well as bile acid transport in hepatocytes, respectively. Thus, we hypothesized that postoperative refractory cholestasis might result from UGT1A1 and ABCB11 gene mutations and further recommended liver transplantation to the patient, who eventually declined it and died from liver failure six months later.
Surgery may aggravate cholestasis in patients with multiple intrahepatic bile duct stones and cholestasis associated with UGT1A1 and ABCB11 gene mutations. A liver transplant may be the best option if active medical treatment fails.
Core Tip: We presented a case of multiple intrahepatic bile duct stones, cholestasis, and progressive jaundice after surgical treatment, which was diagnosed upon the finding of adenosine triphosphate-binding cassette subfamily B member 11 (ABCB11) and uridine 5’-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene mutation from the genetic study. Since the patient refused to undergo liver transplantation, his postoperative aggravating jaundice was medically managed, but he soon died due to liver failure. The UGT1A1 gene is related to the glucuronidation of indirect bilirubin. Its mutation leads to increased indirect bilirubin, while the ABCB11 gene is involved in bile transport, and its mutation may lead to disturbance of bile acid transport, changes in bile composition, cholestasis, and the formation of intrahepatic bile duct stones. Surgical treatment in such patients may induce exacerbation of cholestasis, and liver transplantation should be the preferred treatment if medical management fails.